Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
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Sociedade Brasileira de Cardiologia - SBC
2014
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oai:scielo:S0066-782X20140023000042014-12-05Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 DeletionGrassi,Marcília S.Jacob,Cristina M. A.Kulikowski,Leslie D.Pastorino,Antonio C.Dutra,Roberta L.Miura,NanaJatene,Marcelo B.Pegler,Stephanie P.Kim,Chong A.Carneiro-Sampaio,Magda DiGeorge Syndrme Crromosome Delection Heart Defects Congenital Hypocalcemia Chromosomes Human Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. info:eu-repo/semantics/openAccessSociedade Brasileira de Cardiologia - SBCArquivos Brasileiros de Cardiologia v.103 n.5 20142014-11-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004en10.5935/abc.20140145 |
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Grassi,Marcília S. Jacob,Cristina M. A. Kulikowski,Leslie D. Pastorino,Antonio C. Dutra,Roberta L. Miura,Nana Jatene,Marcelo B. Pegler,Stephanie P. Kim,Chong A. Carneiro-Sampaio,Magda |
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Grassi,Marcília S. Jacob,Cristina M. A. Kulikowski,Leslie D. Pastorino,Antonio C. Dutra,Roberta L. Miura,Nana Jatene,Marcelo B. Pegler,Stephanie P. Kim,Chong A. Carneiro-Sampaio,Magda Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
author_facet |
Grassi,Marcília S. Jacob,Cristina M. A. Kulikowski,Leslie D. Pastorino,Antonio C. Dutra,Roberta L. Miura,Nana Jatene,Marcelo B. Pegler,Stephanie P. Kim,Chong A. Carneiro-Sampaio,Magda |
author_sort |
Grassi,Marcília S. |
title |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
title_short |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
title_full |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
title_fullStr |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
title_full_unstemmed |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion |
title_sort |
congenital heart disease as a warning sign for the diagnosis of the 22q11.2 deletion |
description |
Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. |
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Sociedade Brasileira de Cardiologia - SBC |
publishDate |
2014 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004 |
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